Emma L Baple

24PUBLICATIONS
85CO-AUTHORS
Gene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Genomics
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Publications (24)

|Jul 02, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

|Feb 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Lettie E Rawlins, Philip H Iffland, John Page

|Dec 18, 2025
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic <i>CYP11B1</i> inversion.

Alistair T Pagnamenta, Timothy S Hall, Caroline F Wright

|Nov 27, 2025
Determining the value of genomics in healthcare.

Ilias Goranitis, Robin Z Hayeems, Hadley Stevens Smith

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Frequent Collaborators

9 joint publications

James Fasham

7 joint publications

Joseph S Leslie

6 joint publications

Lettie E Rawlins

5 joint publications

Andrew H Crosby